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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza.
Afiliação
  • Dias CM; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zheng C; Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran.
  • Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, 009851, Iran; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
  • Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
  • Petersen A; Randall Children's Hospital at Legacy Emanuel, Portland, OR 97227, USA.
  • Dehghani M; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Partlow JN; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
  • Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, 34303, Turkey.
  • Malamiri RA; Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6163764648, Iran.
  • Al Menabawy NM; Pediatric Neurology and Metabolic Division, Cairo University Children Hospital, Egypt.
  • Selim LA; Pediatric Neurology and Metabolic Division, Cairo University Children Hospital, Egypt.
  • Vahidi Mehrjardi MY; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Banu S; Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh.
  • Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 549 Brasília, Brazil.
  • Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
  • Rezazadeh Varaghchi J; Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand, Iran.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • van Beusekom E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
  • Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
  • Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Keller-Ramey J; GeneDx, Gaithersburg, MD 20877, USA.
  • Durham L; Randall Children's Hospital at Legacy Emanuel, Portland, OR 97227, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Orlova V; Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
  • Schaeken LLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
  • Sherafat A; Department of Neurology, Faculty of Medicine, Bam University of Medical Sciences, Bam, Iran.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.
  • Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran.
  • Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 770
  • Seiradake E; Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
  • Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
  • van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
  • Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. Electronic address: r.maroofian@ucl.ac.uk.
Am J Hum Genet ; 105(5): 1048-1056, 2019 11 07.
Article em En | MEDLINE | ID: mdl-31668703
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas Ligadas por GPI / Transtornos do Neurodesenvolvimento / Netrinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Proteínas Ligadas por GPI / Transtornos do Neurodesenvolvimento / Netrinas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos